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Artigo Revisado por pares
BIBTEX RIS

Phenomenology and disease progression of chorea-acanthocytosis patients in Spain

2017; Elsevier BV; Volume: 49; Linguagem: Inglês

10.1016/j.parkreldis.2017.10.016

ISSN

1873-5126

Autores

Carlos Estevez‐Fraga, José Luis López-Sendón, Juan Carlos Martínez‐Castrillo, Jesús Pérez‐Pérez, Michele Matarazzo, Pedro Ruiz, Agustín Querejeta, Ricardo Rigual, Ignacio J. Posada Rodríguez, Mónica Kurtis, María Rodríguez‐Oroz, M. R. Luquín, Mar Carmona‐Abellán, Justo García-Yébenes,

Tópico(s)

Genetic Neurodegenerative Diseases

Resumo

Neuroacanthocytosis (NA) comprises the association of movement disorders (MD) and spiny erythrocytes [1]. Autosomal recessive chorea-acanthocytosis (ChAc) is one of the core NA syndromes [2]. It is caused by mutations in the vascular protein sorting 13 homolog A gene (VPS13 A) [3,4] which encodes for the chorein protein [5]. Its prevalence is estimated to be around 1000 cases worldwide [6]. However, some areas such as the Japanese or the French-Canadian community [7] may have a higher prevalence.

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